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Human Disease

spinal muscular atrophy with lower extremity predominant 2A

Term ID
DOID:0070349
Synonyms
  • spinal muscular atrophy with lower extremity predominance 2A
Definition
A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. https://pubmed.ncbi.nlm.nih.gov/23664120/
References
Ontology
Human Disease   ( DOID:0070349 )
Relationships
is a type of
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Genes Involved
Zebrafish Models